The molecular mechanisms of spinocerebellar ataxias for DNA repeat expansion in disease
Spinocerebellar ataxias (SCAs) are a heterogenous group of neurodegenerative disorders
which commonly inherited in an autosomal dominant manner. They cause muscle …
which commonly inherited in an autosomal dominant manner. They cause muscle …
Spinocerebellar ataxia: an update
R Sullivan, WY Yau, E O'Connor, H Houlden - Journal of neurology, 2019 - Springer
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …
Molecular pathogenesis of spinocerebellar ataxias
AM Duenas, R Goold, P Giunti - Brain, 2006 - academic.oup.com
The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative
diseases, clinically and genetically heterogeneous, characterized by loss of balance and …
diseases, clinically and genetically heterogeneous, characterized by loss of balance and …
Spinocerebellar ataxias: from pathogenesis to recent therapeutic advances
ZT Cui, ZT Mao, R Yang, JJ Li, SS Jia… - Frontiers in …, 2024 - frontiersin.org
Spinocerebellar ataxia is a phenotypically and genetically heterogeneous group of
autosomal dominant-inherited degenerative disorders. The gene mutation spectrum …
autosomal dominant-inherited degenerative disorders. The gene mutation spectrum …
DNA repair in trinucleotide repeat ataxias
WY Yau, E O'Connor, R Sullivan, L Akijian… - The FEBS …, 2018 - Wiley Online Library
The inherited cerebellar ataxias comprise of a genetic heterogeneous group of disorders.
Pathogenic expansions of cytosine–adenine–guanine (CAG) encoding polyglutamine tracts …
Pathogenic expansions of cytosine–adenine–guanine (CAG) encoding polyglutamine tracts …
[HTML][HTML] Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease
DD Bushart, GG Murphy… - Annals of Translational …, 2016 - ncbi.nlm.nih.gov
Spinocerebellar ataxias (SCAs) are a heterogeneous group of dominantly inherited
neurodegenerative disorders affecting the cerebellum and its associated pathways. There …
neurodegenerative disorders affecting the cerebellum and its associated pathways. There …
Diagnosis of spinocerebellar ataxias caused by trinucleotide repeat expansions
JE Martindale - Current protocols in human genetics, 2017 - Wiley Online Library
Spinocerebellar ataxias (SCAs) are a group of disorders that are both clinically and
genetically heterogeneous. They usually demonstrate onset in adulthood, but some forms …
genetically heterogeneous. They usually demonstrate onset in adulthood, but some forms …
[HTML][HTML] The cell biology of disease: Cell biology of spinocerebellar ataxia
HT Orr - The Journal of cell biology, 2012 - ncbi.nlm.nih.gov
Ataxia is a neurological disorder characterized by loss of control of body movements.
Spinocerebellar ataxia (SCA), previously known as autosomal dominant cerebellar ataxia, is …
Spinocerebellar ataxia (SCA), previously known as autosomal dominant cerebellar ataxia, is …
Dynamic mutation and human disorders: the spinocerebellar ataxias
MA Costa Lima, MMG Pimentel - … journal of molecular …, 2004 - spandidos-publications.com
A completely new mutational event associated with human diseases-the dynamic mutation-
was discovered in the last decade. The molecular mechanism underlying dynamic mutation …
was discovered in the last decade. The molecular mechanism underlying dynamic mutation …
Clinical characteristics and possible drug targets in autosomal dominant spinocerebellar ataxias
L Szpisjak, D Zadori, P Klivenyi… - CNS & Neurological …, 2019 - ingentaconnect.com
Background & Objective: The autosomal dominant spinocerebellar ataxias (SCAs) belong to
a large and expanding group of neurodegenerative disorders. SCAs comprise more than 40 …
a large and expanding group of neurodegenerative disorders. SCAs comprise more than 40 …
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